MHC class II deficiency
Information
- Disease name
- MHC class II deficiency
- Disease ID
- DOID:5812
- Description
- "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes." [url:https\://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii, url:https\://www.omim.org/entry/209920]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:627
- Cross Reference ID (Disease Ontology)
- ICD10CM:D81.6
- Cross Reference ID (Disease Ontology)
- MESH:D016511
- Cross Reference ID (Disease Ontology)
- MIM:209920
- Cross Reference ID (Disease Ontology)
- NCI:C3895
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:71904008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0242583
- Exact Synonym (Disease Ontology)
- bare lymphocyte syndrome type II
- Exact Synonym (Disease Ontology)
- BLSII
- Exact Synonym (Disease Ontology)
- SCID due to absent class II HLA antigens